Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1305542291
rs1305542291
3 0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05 0.800 0
dbSNP: rs1239725461
rs1239725461
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1395475624
rs1395475624
3 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0
dbSNP: rs1555447569
rs1555447569
4 0.851 0.160 15 76471314 frameshift variant ATTG/- delins 0.700 0
dbSNP: rs1555558169
rs1555558169
2 0.925 0.080 15 76728739 splice acceptor variant T/C snv 0.700 0